Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116928232
rs116928232
LIPA
G 0.740 GeneticVariation CLINVAR

dbSNP: rs1204744283
rs1204744283
LIPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121965087
rs121965087
LIPA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554864404
rs1554864404
LIPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554865199
rs1554865199
LIPA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554865576
rs1554865576
LIPA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554869292
rs1554869292
LIPA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564751995
rs1564751995
LIPA
T 0.700 CausalMutation CLINVAR

dbSNP: rs753796180
rs753796180
LIPA
CGG 0.700 GeneticVariation CLINVAR

dbSNP: rs756016704
rs756016704
LIPA
T 0.700 CausalMutation CLINVAR

dbSNP: rs762559980
rs762559980
LIPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs780495201
rs780495201
LIPA
CA 0.700 CausalMutation CLINVAR

dbSNP: rs797045094
rs797045094
LIPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores. 2129132

1990
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. 8254026

1993
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994
dbSNP: rs121965086
rs121965086
LIPA
0.800 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994
dbSNP: rs1423914418
rs1423914418
LIPA
0.710 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994
dbSNP: rs1554865214
rs1554865214
LIPA
A 0.700 GeneticVariation CLINVAR A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. 7833918

1994
dbSNP: rs780495201
rs780495201
LIPA
CA 0.700 GeneticVariation CLINVAR Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 CausalMutation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. 8598644

1995
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). 7759067

1995
dbSNP: rs770407719
rs770407719
LIPA
0.010 GeneticVariation BEFREE Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD. 7773732

1995